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Definition
By Mayo Clinic staffKrabbe disease (KRAH-buh disease) is an inherited, often fatal disorder affecting the central nervous system. Krabbe disease affects about 1 in every 100,000 people in the United States.
The disease affects muscle tone and movement, and may cause vision and hearing loss, among other devastating effects. In most cases, Krabbe disease develops in babies before 6 months of age, although it can occur in older children and in adults.
There's no cure for Krabbe disease and treatment mainly involves approaches designed to ease symptoms. However, early studies using stem cell transplants to treat Krabbe disease before symptoms begin have had some success.
- Krabbe disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/krabbe-disease. Accessed April 20, 2011.
- Krabbe disease information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm. Accessed April 20, 2011.
- Duffner PK. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease. Genetics in Medicine. 2009;11:450.
- Ropper AH, et al. Inherited metabolic diseases of the nervous system. In: Ropper AH, et al. Adams and Victor's Principles of Neurology. 9th ed. New York, N.Y.: The McGraw-Hill Companies; 2009. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=54. Accessed March 3, 2011.
- Krabbe disease. United Leukodystrophy Foundation. http://www.ulf.org/types/krabbe.html. Accessed April 20, 2011.
- Sakai N. Pathogenesis of leukodystrophy for Krabbe disease: Molecular mechanism and clinical treatment. Brain & Development. 2009;31:485.
- Duffner PK, et al. Newborn screening for Krabbe disease: The New York state model. Pediatric Neurology. 2009;40:245.
- Kemper AR, et al. Weighing the evidence for newborn screening for early-infantile Krabbe disease. Genetics in Medicine. 2010;12:539.
- National newborn screening status report. National Newborn Screening and Genetics Resource Center. http://genes-r-us.uthscsa.edu/nbsdisorders.pdf. Accessed April 20, 2011.
- Wenger DA. Krabbe disease. In: Pagon RA, et al. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1238/. Accessed April 20, 2011.
- Renaud DL (expert opinion). Mayo Clinic, Rochester, Minn. May 3, 2011.
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